SMARCE1: SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily E, Member 1
A core component of the SWI/SNF chromatin remodeling complex implicated in tumor suppression and Coffin-Siris syndrome
Gene Information Card
| Symbol | SMARCE1 |
|---|---|
| Full Name | SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily E, Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 6605 ncbi.nlm.nih.gov/gene/6605 |
| Ensembl ID | ENSG00000073584 |
| UniProt ID | Q969G3 |
| OMIM ID | 603111 |
| HGNC ID | 11109 |
| Aliases | BAF57, CSS5, SMARCE1_HUMAN |
Description
SMARCE1 encodes BAF57, a core subunit of the SWI/SNF chromatin remodeling complex. This complex regulates gene expression by altering nucleosome positioning. SMARCE1 is essential for embryonic development and acts as a tumor suppressor. Germline mutations cause Coffin-Siris syndrome type 5, and somatic mutations are associated with meningiomas and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome 5 (CSS5) | Loss-of-function mutations in SMARCE1 disrupt SWI/SNF complex activity, leading to developmental abnormalities. | OMIM #616938 |
| Meningioma (spinal and cranial) | Somatic loss-of-function mutations (e.g., frameshift, nonsense) inactivate SMARCE1, promoting tumorigenesis. | ClinVar, COSMIC |
| Clear cell meningioma | Recurrent SMARCE1 mutations are a hallmark of clear cell meningioma, often with biallelic inactivation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Medium expression |
| MCF7 | 7.8 | Medium expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118C>T (p.Arg40*) | Nonsense | Rare | Loss of function; truncation of BAF57 |
| c.370_371del (p.Leu124Valfs*2) | Frameshift | Rare | Loss of function; premature termination |
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of function; translation initiation failure |
Mutation functional classification
Loss of Function (LOF)
Most SMARCE1 mutations are loss-of-function (nonsense, frameshift, splice site), leading to haploinsufficiency or complete loss of BAF57 protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SMARCE1.
Dominant Negative (DN)
Dominant-negative effects are not established; the mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • nucleosome disassembly |
| • DNA repair | • transcription regulation |
| • SWI/SNF complex |
Pathways
• Chromatin organization
• SWI/SNF superfamily-type complex
• Transcriptional regulation by the SWI/SNF complex
Protein Summary
BAF57 is a 411-amino acid protein containing a high-mobility group (HMG) domain that binds DNA and a coiled-coil domain. It is a structural component of the SWI/SNF complex, facilitating chromatin remodeling and gene expression regulation. BAF57 interacts with other subunits like SMARCB1 and SMARCA4.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCE1 Knockout HEK293 Cell Line | EDC90425 | Human | 6605 | Details Get a Quote |
| SMARCE1 Knockout HeLa Cell Line | EDJ-KQ54524 | Human | 6605 | Details Get a Quote |
| SMARCE1 Knockout A-549 Cell Line | EDJ-KQ63008 | Human | 6605 | Details Get a Quote |
| SMARCE1 Knockout HCT 116 Cell Line | EDJ-KQ71483 | Human | 6605 | Details Get a Quote |
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